Detalhe da pesquisa
1.
Resistance to Thyroid Hormones: A Case-Series Study.
Int J Mol Sci
; 23(19)2022 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36232568
2.
Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants.
Am J Med Genet A
; 179(9): 1718-1724, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31215153
3.
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Invest Ophthalmol Vis Sci
; 62(2): 13, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576794
4.
Oguchi type I caused by a homozygous missense variation in the SAG gene.
Eur J Med Genet
; 62(9): 103548, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30267901
5.
A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
Eur J Med Genet
; 61(2): 79-83, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29079548
6.
FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.
Oncotarget
; 7(34): 54228-54239, 2016 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27276711